Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic.

Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact.

Traumatic optic neuropathy in orbital wall fractures- diagnostic parameters and treatment outcomes: A prospective observational study.

INTRODUCTION: The aim of the study was to evaluate the associated patterns of orbital wall fractures, diagnostic parameters of Traumatic optic neuropathy and its progress with Mega dose steroid therapy. MATERIALS AND METHODS: 25 patients with unilateral orbital wall fractures of traumatic aetiology were evaluated with ophthalmologic and radiographic parameters. All patients were prescribed Mega Dose Intravenous steroids irrespective of the timing of presentation. Ophthalmic assessment was repeated for same parameters every alternate day upto 2 weeks. RESULTS: Lateral orbital wall was found to be most commonly involved. Visual acuity, Pupillary Reactivity, Visual Field and Visual Evoked Potential showed statistically significant improvement post steroid therapy in early as well as late presenters. DISCUSSION: Highest incidence of Traumatic optic neuropathy was noted in multiple linear orbital wall fractures with highest incidence with lateral orbital wall involvement. Literature regarding Choice and timing of initiation of steroids based on timing of presentation is inadequate to justify skipping steroids to observe or undertake surgical intervention. In the present study marked improvement was noted post steroid therapy regardless of timing of presentation. The authors conclude that Visual evoked potential should be objectively tested and Mega dose steroid therapy should be initiated for all patients with Traumatic optic neuropathy for maximum benefit to the patient.

Retinoblastoma genetics screening and clinical management.

BACKGROUND: India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored. METHODS: Fifty children with RB underwent complete clinical examination and appropriate multidisciplinary management. Screening of germline RB1 gene mutations was performed through next-generation sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. The mutation and non-mutation groups were compared for clinical parameters especially severity, progression and recurrence. RESULTS: Twenty-nine patients had bilateral RB (BLRB) and 21 had unilateral RB (ULRB). The genetic analysis revealed 20 RB1 variations in 29 probands, inclusive of 3 novel mutations, known 16 mutations and heterozygous whole gene deletions. The mutation detection rate (MDR) was 86.2% in BLRB and 19% in ULRB. Associations of disease recurrence (p = 0.021), progression (p = 0.000) and higher percentage of optic nerve invasion, subretinal seeds and high-risk pathological factors were observed in the mutation group. Clinical management was influenced by the presence of germline mutations, particularly while deciding on enucleation, frequency of periodic follow up and radiotherapy. CONCLUSIONS: We identified novel RB1 mutations, and our mutation detection rate was on par with the previous global studies. In our study, genetic results influenced clinical management and we suggest that it should be an essential and integral component of RB-care in India and elsewhere.

Traumatic eye ball luxation: A stepwise approach to globe salvage.

Craniofacial trauma is often associated with orbital and ocular injuries. We report a case of a 21-year-old male with motor vehicular accident, orbital roof blow-in fracture, cerebrospinal fluid (CSF) leak, and left sided globe luxation with corneal abrasion and complete conjunctival denuding. The patient was managed by a multispeciality team and the eyeball was protected by amniotic membrane graft (AMG) biological dressing with novel use of inverted sterile metallic bowl as mechanical protection till the patient stabilized. During surgery, eyeball was reposited and ocular surface was reconstructed using amniotic membrane and symblepharon ring. Surgical correction and plating of the facial fractures and dural repair with autologus tensor fascia lata was done. Post surgery ocular surface was intact, ocular motility was well preserved and the globe was prephthisical. Traumatic eyeball luxation is a rare, but dramatic presentation which may occur in a blow in fracture when the intra orbital volume reduces and expels the eye ball out of the socket. This may be associated with extra ocular muscle rupture or optic nerve avulsion. The visual prognosis is nil in majority cases. However, the management is targeted towards globe preservation in view of psychological benefit and ease of cosmetic or prosthetic rehabilitation. Knowing the mechanism of luxation helps to plan the management. A stepwise approach for globe salvage is recommended. Team efforts to take care of various morbidities with special steps to safeguard the eye help to optimize outcomes.

Dermis fat graft for pediatric exenteration-challenging but rewarding.

Orbital exenteration is a destructive and disfiguring surgery and involves removal of the entire orbital contents, soft tissue and often lids as well. We report a case of an eight month old female, with malignant orbital teratoma who underwent lid sparing exenteration for the destructive, locally advanced disease. Three month post surgery she developed recurrence with intracranial extension as well as socket infection with pus discharge. Repeat surgery involved a multispeciality approach for removal of the tumor which was abutting the cavernous sinus posteriorly and ethmoid sinus medially, apart from filling the entire bony orbit. The focus of infection was found to be the retained lacrimal sac. The unhealthy lid skin also had to be sacrificed. The challenges in repeat exenteration of an 8 month old, and the utility of autologous dermis fat graft as a reconstructive option are discussed.

Electron beam radiotherapy for the management of recurrent extensive ocular surface squamous neoplasia with orbital extension.

Recurrent extensive ocular surface squamous neoplasia (OSSN) with orbital invasion can be successfully managed with external radiotherapy using electrons resulting in eye and vision salvage. We report a case of right eye recurrent OSSN in an immunocompetent adult Indian male, with extensive orbital involvement. The patient had two previous surgical excisions with recurrent disease. At this stage, conventionally exenteration is considered the treatment modality. However, he was treated with 5040 cGy radiotherapy (15eV electrons) resulting in complete disease regression. At the end of 3 years follow-up, the patient was disease free, maintained a vision of 20/25, with mild dry eye, well-managed with topical lubricants. Extensive OSSN with orbital invasion does not always need exenteration. External beam electron radiotherapy provides a noninvasive cure with organ and vision salvage and should be considered in extensive OSSN not amenable to simple excision biopsies. Long-term studies to evaluate the effect of radiation on such eyes are suggested.

Novel surgical technique for the management of partial cryptophthalmos.

We report a case of a 2-month-old baby with bilateral nonsyndromic partial cryptophthalmos presenting with upper eyelid incomplete development and fusion to the cornea with resultant inability to close the eyes. He was managed successfully with bilateral upper lid reconstruction with composite graft using maternal skin and oral mucous membrane, amniotic membrane, and donor scleral graft. After this one stage surgery, lids were well-formed, and the patient was able to close both eyes, thus achieving good anatomical, functional, and cosmetic outcome.

Bilateral dacryoceles associated with bilateral alacrimia with punctal and canalicular agenesis.

To report a rare case of a 19 year old female presenting with bilateral dacryocele and punctal and canalicular agenesis without epiphora. After clinical and radiological examination, the patient was found to have bilateral lacrimal gland agenesis as well. No other dental, otological or systemic abnormality suggestive of lacrimo-auricular-dento-digital syndrome was detected. She was managed with bilateral dacryocystectomy. Algorithm for managing such nonconventional lacrimal outflow dysgenesis based on presenting symptoms and co existing epiphora is proposed. Rationale of preferring lacrimal sac excision instead of dacryocystorhinostomy in this case is also discussed.

Endoscopic guided single self-linking silicone stent in pediatric external dacryocystorhinostomy.

AIMS: To study the efficacy of a new technique of single self-linking silicone stent exclusively in pediatric external dacryocystorhinostomy (DCR) and to report the new use and advantages of endoscopic guidance for the same. MATERIAL AND METHODS: Prospective interventional case series, including 11 eyes of ten patients with nasolacrimal duct obstruction. Data collected included demographic data, clinical presentation, laterality, status of lids and puncta, syringing findings, probing interpretations, types and duration of intubation. Consecutive pediatric patients with post-saccal obstruction who underwent an external dacryocystorhinostomy were included. Exclusion criteria included patients who had undergone a DCR in the past by any route via external, endonasal or transcanalicular. Primary outcome measures were stent retention and ease of stent removal. Secondary outcome measures were anatomic patency of the passage and resolution of symptoms. RESULTS: There were three male and seven female patients. Mean age was 9.4 years (range 6-15). A total of 11 procedures were carried out. Following placement of self-linked stents, the removal was done at a mean duration of 13.2 weeks (range:12-16 weeks). None of the patients had a stent prolapse during this period. All stents were removed in the outpatient without the use of general anesthesia with minimal endoscopic guidance. A minimum follow-up of three months following removal was considered for final analysis. Follow-up ranged from three months to six months after tube removal. The anatomical and functional success rate was 91%. There was one anatomical failure three months following tube removal and the remaining patients were free of symptoms at the last follow-up. CONCLUSIONS: Self-linking stents are a useful modality in pediatric patients not only to prevent stent prolapse but also to allow easy removal with minimum discomfort. Endoscopic guidance is a useful addition to this technique.

Acquired nasolacrimal duct obstructions secondary to naso-orbito-ethmoidal fractures: patterns and outcomes.

PURPOSE: This study reports a series of 14 consecutive patients of nasolacrimal duct obstruction secondary to naso-orbito-ethmoid fractures (NOE), their presentations, surgical interventions, and outcomes. METHODS: Fourteen consecutive patients presenting with secondary acquired nasolacrimal duct obstructions following naso-orbito-ethmoid fractures were included in a retrospective, noncomparative case series. Medical records were reviewed for demographic data, mode of trauma, types of NOE fractures, type of fracture repair, symptoms at presentation, duration of symptoms, areas of lacrimal obstructions, surgical interventions, lengths of follow up, and outcomes. Success was defined as both anatomical patency of the lacrimal passages and resolution of symptoms. RESULTS: The mean age at presentation was 26.4 years (range: 4-46). The most common mode of trauma was a road traffic accident (71.4%), and the most common type of fracture was NOE type II (64.2%). The majority of the fractures (71.4%) were repaired by open reduction and internal fixation. All patients presented with epiphora, and 50% of them also presented with a swelling below the medial canthus. The mean duration of symptoms were 19.5 months (range: 1-48). All patients underwent an external DCR with mitomycin C and silicone intubation. All stents were removed at 12 weeks following surgery. The mean follow up after stent removal was 6 months (range 3-24 months) with a minimum follow up of 3 months. At the last follow up, the success rate was 92.8%. There was one failure, which was due to cicatricial closure of the ostium. CONCLUSION: External dacryocystorhinostomy with Mitomycin-C and intubation is effective in treatment of acquired nasolacrimal duct obstructions following NOE fractures. A delayed dacryocystorhinostomy did not appear to influence the outcomes.